Canonical Allele Identifier: CA913190205

Gene: HFE H2BC4 H2BC3 HFE-AS1

Linked Data

• ClinVar Variation Id: 633265
• ClinVar RCV Id: RCV000781466
• dbSNP Id: rs1561939338

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26090839_26090842delinsTGGAGTC , CM000668.2:g.26090839_26090842delinsTGGAGTC	GRCh38
NC_000006.11:g.26091067_26091070delinsTGGAGTC , CM000668.1:g.26091067_26091070delinsTGGAGTC	GRCh37
NC_000006.10:g.26199046_26199049delinsTGGAGTC	NCBI36
NG_008720.2:g.8559_8562delinsTGGAGTC , LRG_748:g.8559_8562delinsTGGAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.77-2_78delinsTGGAGTC (HFE)
ENST00000707188.1:c.583_586delinsGACTCCA (H2BC4)	ENSP00000516775.1:n.583_586delinsGACTCCA
ENST00000357618.10:c.77-2_78delinsTGGAGTC (HFE)
ENST00000309234.10:c.77-2_78delinsTGGAGTC (HFE)
ENST00000317896.11:c.77-2_78delinsTGGAGTC (HFE)
ENST00000336625.12:c.77-2_78delinsTGGAGTC (HFE)
ENST00000349999.8:c.77-475_77-472delinsTGGAGTC (HFE)	ENSP00000259699.6:n.77-475_77-472delinsTGGAGTC
ENST00000352392.8:c.77-2280_77-2277delinsTGGAGTC (HFE)	ENSP00000315936.4:n.77-2280_77-2277delinsTGGAGTC
ENST00000353147.9:c.77-1846_77-1843delinsTGGAGTC (HFE)	ENSP00000312342.5:n.77-1846_77-1843delinsTGGAGTC
ENST00000357618.9:c.77-2_78delinsTGGAGTC (HFE)
ENST00000397022.7:c.77-71_77-68delinsTGGAGTC (HFE)	ENSP00000380217.3:n.77-71_77-68delinsTGGAGTC
ENST00000461397.5:c.77-2_78delinsTGGAGTC (HFE)
ENST00000470149.5:c.77-2_78delinsTGGAGTC (HFE)
ENST00000483782.1:n.199-2_200delinsTGGAGTC (HFE)
ENST00000486147.1:n.120-2_121delinsTGGAGTC (HFE)
ENST00000488199.5:c.77-475_77-472delinsTGGAGTC (HFE)	ENSP00000420559.1:n.77-475_77-472delinsTGGAGTC
ENST00000629531.1:c.132+32931_132+32934delinsGACTCCA (H2BC3)	ENSP00000486472.1:n.132+32931_132+32934delinsGACTCCA
NM_000410.3:c.77-2_78delinsTGGAGTC , LRG_748t1:c.77-2_78delinsTGGAGTC (HFE)
NM_001300749.1:c.77-2_78delinsTGGAGTC (HFE)
NM_139003.2:c.77-2_78delinsTGGAGTC (HFE)
NM_139004.2:c.77-2_78delinsTGGAGTC (HFE)
NM_139006.2:c.77-2_78delinsTGGAGTC (HFE)
NM_139007.2:c.77-475_77-472delinsTGGAGTC (HFE)	NP_620576.1:n.77-475_77-472delinsTGGAGTC
NM_139008.2:c.77-475_77-472delinsTGGAGTC (HFE)	NP_620577.1:n.77-475_77-472delinsTGGAGTC
NM_139009.2:c.77-71_77-68delinsTGGAGTC (HFE)	NP_620578.1:n.77-71_77-68delinsTGGAGTC
NM_139010.2:c.77-1846_77-1843delinsTGGAGTC (HFE)	NP_620579.1:n.77-1846_77-1843delinsTGGAGTC
NM_139011.2:c.77-2280_77-2277delinsTGGAGTC (HFE)	NP_620580.1:n.77-2280_77-2277delinsTGGAGTC
XM_011514543.1:c.77-2_78delinsTGGAGTC (HFE)
XM_011514544.1:c.77-2_78delinsTGGAGTC (HFE)
XR_241893.2:n.199-2_200delinsTGGAGTC (HFE)
NR_144383.1:n.193_196delinsGACTCCA (HFE-AS1)
XM_011514543.3:c.77-2_78delinsTGGAGTC (HFE)
XR_241893.4:n.171-2_172delinsTGGAGTC (HFE)
NM_001300749.2:c.77-2_78delinsTGGAGTC (HFE)
NM_139003.3:c.77-2_78delinsTGGAGTC (HFE)
NM_139004.3:c.77-2_78delinsTGGAGTC (HFE)
NM_139006.3:c.77-2_78delinsTGGAGTC (HFE)
NM_139007.3:c.77-475_77-472delinsTGGAGTC (HFE)	NP_620576.1:n.77-475_77-472delinsTGGAGTC
NM_139008.3:c.77-475_77-472delinsTGGAGTC (HFE)	NP_620577.1:n.77-475_77-472delinsTGGAGTC
NM_139009.3:c.77-71_77-68delinsTGGAGTC (HFE)	NP_620578.1:n.77-71_77-68delinsTGGAGTC
NM_139010.3:c.77-1846_77-1843delinsTGGAGTC (HFE)	NP_620579.1:n.77-1846_77-1843delinsTGGAGTC
NM_139011.3:c.77-2280_77-2277delinsTGGAGTC (HFE)	NP_620580.1:n.77-2280_77-2277delinsTGGAGTC
NM_000410.4:c.77-2_78delinsTGGAGTC (HFE)
NM_001384164.1:c.77-2_78delinsTGGAGTC (HFE)